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Article

Premature and severe cardiovascular disease in a Mexican male with markedly low high-density-lipoprotein-cholesterol levels and a mutation in the lecithin:cholesterol acyltransferase gene: A family study

  • Authors:
    • Rosalinda Posadas-Sánchez
    • Carlos Posadas-Romero
    • Wendy Angélica Ocampo-Arcos
    • María Teresa Villarreal-Molina
    • Gilberto Vargas-Alarcón
    • Erika Antúnez-Argüelles
    • Enrique Mendoza-Pérez
    • Guillermo Cardoso-Saldaña
    • Rocío Martínez-Alvarado
    • Aída Medina-Urrutia
    • Esteban Jorge-Galarza
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, National Institute of Cardiology ̔Ignacio Chávez̓ (INCICH), Tlalpan, Mexico City 14080, Mexico, Laboratory of Genomics of Cardiovascular Disease, National Institute of Genomic Medicine (INMEGEN), Tlalpan, Mexico City 14610, Mexico, Department of Molecular Biology, National Institute of Cardiology ̔Ignacio Chávez̓ (INCICH), Tlalpan, Mexico City 14080, Mexico
  • Pages: 1570-1576
    |
    Published online on: April 7, 2014
       https://doi.org/10.3892/ijmm.2014.1733
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Abstract

Epidemiological and clinical studies have shown that a low plasma high‑density lipoprotein cholesterol (HDL-C) level is a strong predictor of cardiovascular disease (CVD). Lecithin:cholesterol acyltransferase (LCAT) is a key enzyme in the formation, maturation and function of HDL. Therefore impaired LCAT function may enhance atherosclerosis because of defective cholesterol transport. In this study, we examined a 34-year old LCAT‑deficient patient and eight first-degree family members. There was a strong family history for CVD and type 2 diabetes mellitus (DM2). The proband was found homozygous for a previously reported LCAT gene mutation (Thr37Met). A sister and two sons of the proband were heterozygous for the same mutation. The proband had DM2 and showed severe multivessel coronary artery disease, corneal opacification and extremely low HDL-C levels. Large HDL particles were absent while small HDL particles were increased. The HDL of the patient had a reduced ability to promote cell cholesterol efflux, and the low‑density lipoproteins (LDL) were more susceptible to oxidation. Among his family members, two heterozygotes and one non-carrier had early carotid or coronary atherosclerosis. In conclusion, as the increased LDL oxidability and structural and functional abnormalities of HDL particles have been reported in patients with obesity and diabetes, the results suggested that the adverse coronary risk profile, and not being LCAT deficient, may be responsible for the CVD found in our proband, and for the early atherosclerosis observed in the two heterozygotes and in the wild‑type family members.
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Copy and paste a formatted citation
Spandidos Publications style
Posadas-Sánchez R, Posadas-Romero C, Ocampo-Arcos WA, Villarreal-Molina MT, Vargas-Alarcón G, Antúnez-Argüelles E, Mendoza-Pérez E, Cardoso-Saldaña G, Martínez-Alvarado R, Medina-Urrutia A, Medina-Urrutia A, et al: Premature and severe cardiovascular disease in a Mexican male with markedly low high-density-lipoprotein-cholesterol levels and a mutation in the lecithin:cholesterol acyltransferase gene: A family study. Int J Mol Med 33: 1570-1576, 2014.
APA
Posadas-Sánchez, R., Posadas-Romero, C., Ocampo-Arcos, W.A., Villarreal-Molina, M.T., Vargas-Alarcón, G., Antúnez-Argüelles, E. ... Jorge-Galarza, E. (2014). Premature and severe cardiovascular disease in a Mexican male with markedly low high-density-lipoprotein-cholesterol levels and a mutation in the lecithin:cholesterol acyltransferase gene: A family study. International Journal of Molecular Medicine, 33, 1570-1576. https://doi.org/10.3892/ijmm.2014.1733
MLA
Posadas-Sánchez, R., Posadas-Romero, C., Ocampo-Arcos, W. A., Villarreal-Molina, M. T., Vargas-Alarcón, G., Antúnez-Argüelles, E., Mendoza-Pérez, E., Cardoso-Saldaña, G., Martínez-Alvarado, R., Medina-Urrutia, A., Jorge-Galarza, E."Premature and severe cardiovascular disease in a Mexican male with markedly low high-density-lipoprotein-cholesterol levels and a mutation in the lecithin:cholesterol acyltransferase gene: A family study". International Journal of Molecular Medicine 33.6 (2014): 1570-1576.
Chicago
Posadas-Sánchez, R., Posadas-Romero, C., Ocampo-Arcos, W. A., Villarreal-Molina, M. T., Vargas-Alarcón, G., Antúnez-Argüelles, E., Mendoza-Pérez, E., Cardoso-Saldaña, G., Martínez-Alvarado, R., Medina-Urrutia, A., Jorge-Galarza, E."Premature and severe cardiovascular disease in a Mexican male with markedly low high-density-lipoprotein-cholesterol levels and a mutation in the lecithin:cholesterol acyltransferase gene: A family study". International Journal of Molecular Medicine 33, no. 6 (2014): 1570-1576. https://doi.org/10.3892/ijmm.2014.1733
Copy and paste a formatted citation
x
Spandidos Publications style
Posadas-Sánchez R, Posadas-Romero C, Ocampo-Arcos WA, Villarreal-Molina MT, Vargas-Alarcón G, Antúnez-Argüelles E, Mendoza-Pérez E, Cardoso-Saldaña G, Martínez-Alvarado R, Medina-Urrutia A, Medina-Urrutia A, et al: Premature and severe cardiovascular disease in a Mexican male with markedly low high-density-lipoprotein-cholesterol levels and a mutation in the lecithin:cholesterol acyltransferase gene: A family study. Int J Mol Med 33: 1570-1576, 2014.
APA
Posadas-Sánchez, R., Posadas-Romero, C., Ocampo-Arcos, W.A., Villarreal-Molina, M.T., Vargas-Alarcón, G., Antúnez-Argüelles, E. ... Jorge-Galarza, E. (2014). Premature and severe cardiovascular disease in a Mexican male with markedly low high-density-lipoprotein-cholesterol levels and a mutation in the lecithin:cholesterol acyltransferase gene: A family study. International Journal of Molecular Medicine, 33, 1570-1576. https://doi.org/10.3892/ijmm.2014.1733
MLA
Posadas-Sánchez, R., Posadas-Romero, C., Ocampo-Arcos, W. A., Villarreal-Molina, M. T., Vargas-Alarcón, G., Antúnez-Argüelles, E., Mendoza-Pérez, E., Cardoso-Saldaña, G., Martínez-Alvarado, R., Medina-Urrutia, A., Jorge-Galarza, E."Premature and severe cardiovascular disease in a Mexican male with markedly low high-density-lipoprotein-cholesterol levels and a mutation in the lecithin:cholesterol acyltransferase gene: A family study". International Journal of Molecular Medicine 33.6 (2014): 1570-1576.
Chicago
Posadas-Sánchez, R., Posadas-Romero, C., Ocampo-Arcos, W. A., Villarreal-Molina, M. T., Vargas-Alarcón, G., Antúnez-Argüelles, E., Mendoza-Pérez, E., Cardoso-Saldaña, G., Martínez-Alvarado, R., Medina-Urrutia, A., Jorge-Galarza, E."Premature and severe cardiovascular disease in a Mexican male with markedly low high-density-lipoprotein-cholesterol levels and a mutation in the lecithin:cholesterol acyltransferase gene: A family study". International Journal of Molecular Medicine 33, no. 6 (2014): 1570-1576. https://doi.org/10.3892/ijmm.2014.1733
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